KCNJ8 potassium inwardly rectifying channel subfamily J member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNJ8provided by HGNC
Official Full Name: potassium inwardly rectifying channel subfamily J member 8provided by HGNC
Primary source: HGNC:HGNC:6269
See related: Ensembl:ENSG00000121361 MIM:600935; AllianceGenome:HGNC:6269
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KIR6.1; uKATP-1
Summary: Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins. Defects in this gene may be a cause of J-wave syndromes and sudden infant death syndrome (SIDS). [provided by RefSeq, May 2012]
Expression: Broad expression in fat (RPKM 16.1), heart (RPKM 14.3) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (21764955..21774706, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (21643637..21653388, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (21917889..21927640, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Vascular KATP channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.
Title: Vascular K(ATP) channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.
The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia.
Title: The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia.
A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantu syndrome.
Title: A novel mutation in the KCNJ8 gene encoding the Kir6.1 subunit of an ATP-sensitive potassium channel in a Japanese patient with Cantú syndrome.
Three-dimensional facial morphology in Cantu syndrome.
Title: Three-dimensional facial morphology in Cantú syndrome.
KCNJ8-S422L as pathogenic for J-wave syndromes failed to appropriately account for European population structure and the variant is likely benign, or (b) Ashkenazi Jews may be at significantly increased risk of J-wave syndromes
Title: The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews.
We identified a de novo missense mutation encoding Kir6.1[p.Cys176Ser] in the patient. Kir6.1[p.Cys176Ser] channels exhibited markedly higher activity than wild-type channels, as a result of reduced ATP sensitivity.
Title: Cantú syndrome resulting from activating mutation in the KCNJ8 gene.
KATP channels are up-regulated with increasing age in human myometrium
Title: KATP channels are up-regulated with increasing age in human myometrium.
Data indicate that pharmacological KvLQT1 and KATP (Kir6.1) inhibition or silencing with siRNAs down-regulated alpha-ENaC expression.
Title: K+ channels regulate ENaC expression via changes in promoter activity and control fluid clearance in alveolar epithelial cells.
The KCNJ8-S422L variant was shown to be associated with both increased susceptibility to atrial fibrillation and early repolarization.
Title: A KCNJ8 mutation associated with early repolarization and atrial fibrillation.
results suggest that acting on the 3'-UTR of Kir6.1 and the coding region of SUR2B, methylglyoxal causes instability of Kir6.1 and SUR2B mRNAs, disruption of vascular K(ATP) channels, and impairment of arterial function
Title: Prolonged exposure to methylglyoxal causes disruption of vascular KATP channel by mRNA instability.

Submit: New GeneRIF Correction See all GeneRIFs (31)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92325 (e-PCR)
- UniSTS:85837

RH80763 (e-PCR)
- UniSTS:91383

KCNJ8_V182 (e-PCR)
- UniSTS:477435

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP-activated inward rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATP-activated inward rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables ATP-activated inward rectifier potassium channel activity	NAS Non-traceable Author Statement more info	PubMed
enables ATPase-coupled monoatomic cation transmembrane transporter activity	ISS Inferred from Sequence or Structural Similarity more info
enables inward rectifier potassium channel activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sulfonylurea receptor binding	IEA Inferred from Electronic Annotation more info
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP Inferred from Mutant Phenotype more info	PubMed
enables voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS Non-traceable Author Statement more info	PubMed
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in CAMKK-AMPK signaling cascade	IEA Inferred from Electronic Annotation more info
involved_in NLRP3 inflammasome complex assembly	IEA Inferred from Electronic Annotation more info
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in atrioventricular node cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in coronary vasculature development	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in determination of adult lifespan	IEA Inferred from Electronic Annotation more info
involved_in establishment of cell polarity	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in fatty acid transport	IEA Inferred from Electronic Annotation more info
involved_in fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in glutamate secretion, neurotransmission	IEA Inferred from Electronic Annotation more info
involved_in heart morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in inorganic cation transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microglial cell activation	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process	IEA Inferred from Electronic Annotation more info
involved_in p38MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in potassium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in protein secretion	IEA Inferred from Electronic Annotation more info
involved_in reactive gliosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of blood pressure	IEA Inferred from Electronic Annotation more info
involved_in regulation of heart rate	IEA Inferred from Electronic Annotation more info
involved_in regulation of monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of presynaptic membrane potential	IEA Inferred from Electronic Annotation more info
involved_in response to ATP	IEA Inferred from Electronic Annotation more info
involved_in response to cytokine	IEA Inferred from Electronic Annotation more info
involved_in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
involved_in response to exogenous dsRNA	IEA Inferred from Electronic Annotation more info
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to insulin	IEA Inferred from Electronic Annotation more info
involved_in response to ischemia	IEA Inferred from Electronic Annotation more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in response to resveratrol	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in synaptic assembly at neuromuscular junction	IEA Inferred from Electronic Annotation more info
involved_in transmission of nerve impulse	IEA Inferred from Electronic Annotation more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed
involved_in vasodilation	IEA Inferred from Electronic Annotation more info
involved_in ventricular cardiac muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
part_of inward rectifying potassium channel	IEA Inferred from Electronic Annotation more info
located_in myofibril	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of potassium ion-transporting ATPase complex	ISS Inferred from Sequence or Structural Similarity more info
located_in presynaptic active zone membrane	IEA Inferred from Electronic Annotation more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info
part_of voltage-gated potassium channel complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: ATP-sensitive inward rectifier potassium channel 8

Names: inward rectifier K(+) channel Kir6.1; inwardly rectifying potassium channel KIR6.1; potassium channel, inwardly rectifying subfamily J member 8; potassium voltage-gated channel subfamily J member 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_041794.1 RefSeqGene

Range

5116..14867

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004982.4 → NP_004973.1 ATP-sensitive inward rectifier potassium channel 8

See identical proteins and their annotated locations for NP_004973.1

Status: REVIEWED

Source sequence(s)

AL546327, BQ003792, D50312

Consensus CDS

CCDS8692.1

UniProtKB/Swiss-Prot

O00657, Q15842

UniProtKB/TrEMBL

A8K706

Related

ENSP00000240662.2, ENST00000240662.3

Conserved Domains (2) summary

pfam01007
Location:37 → 184

IRK; Inward rectifier potassium channel

pfam17655
Location:191 → 363

IRK_C; Inward rectifier potassium channel C-terminal domain